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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 3-27284881-G-GA (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=27284881&ref=G&alt=GA&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 27284881,
      "ref": "G",
      "alt": "GA",
      "effect": "frameshift_variant",
      "transcript": "NM_152534.6",
      "consequences": [
        {
          "aa_ref": "H",
          "aa_alt": "H?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEK10",
          "gene_hgnc_id": 18592,
          "hgvs_c": "c.1869dupT",
          "hgvs_p": "p.His624fs",
          "transcript": "NM_001394966.1",
          "protein_id": "NP_001381895.1",
          "transcript_support_level": null,
          "aa_start": 623,
          "aa_end": null,
          "aa_length": 1115,
          "cds_start": 1869,
          "cds_end": null,
          "cds_length": 3348,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000691995.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001394966.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H?",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEK10",
          "gene_hgnc_id": 18592,
          "hgvs_c": "c.1869dupT",
          "hgvs_p": "p.His624fs",
          "transcript": "ENST00000691995.1",
          "protein_id": "ENSP00000509472.1",
          "transcript_support_level": null,
          "aa_start": 623,
          "aa_end": null,
          "aa_length": 1115,
          "cds_start": 1869,
          "cds_end": null,
          "cds_length": 3348,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001394966.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000691995.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEK10",
          "gene_hgnc_id": 18592,
          "hgvs_c": "c.1869dupT",
          "hgvs_p": "p.His624fs",
          "transcript": "NM_001394970.1",
          "protein_id": "NP_001381899.1",
          "transcript_support_level": null,
          "aa_start": 623,
          "aa_end": null,
          "aa_length": 1172,
          "cds_start": 1869,
          "cds_end": null,
          "cds_length": 3519,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001394970.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEK10",
          "gene_hgnc_id": 18592,
          "hgvs_c": "c.1869dupT",
          "hgvs_p": "p.His624fs",
          "transcript": "NM_152534.6",
          "protein_id": "NP_689747.3",
          "transcript_support_level": null,
          "aa_start": 623,
          "aa_end": null,
          "aa_length": 1172,
          "cds_start": 1869,
          "cds_end": null,
          "cds_length": 3519,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_152534.6"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEK10",
          "gene_hgnc_id": 18592,
          "hgvs_c": "c.1869dupT",
          "hgvs_p": "p.His624fs",
          "transcript": "ENST00000429845.6",
          "protein_id": "ENSP00000395849.2",
          "transcript_support_level": 5,
          "aa_start": 623,
          "aa_end": null,
          "aa_length": 1172,
          "cds_start": 1869,
          "cds_end": null,
          "cds_length": 3519,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000429845.6"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEK10",
          "gene_hgnc_id": 18592,
          "hgvs_c": "c.1869dupT",
          "hgvs_p": "p.His624fs",
          "transcript": "NM_001394963.1",
          "protein_id": "NP_001381892.1",
          "transcript_support_level": null,
          "aa_start": 623,
          "aa_end": null,
          "aa_length": 1162,
          "cds_start": 1869,
          "cds_end": null,
          "cds_length": 3489,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001394963.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEK10",
          "gene_hgnc_id": 18592,
          "hgvs_c": "c.1869dupT",
          "hgvs_p": "p.His624fs",
          "transcript": "ENST00000936071.1",
          "protein_id": "ENSP00000606130.1",
          "transcript_support_level": null,
          "aa_start": 623,
          "aa_end": null,
          "aa_length": 1162,
          "cds_start": 1869,
          "cds_end": null,
          "cds_length": 3489,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000936071.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEK10",
          "gene_hgnc_id": 18592,
          "hgvs_c": "c.1782dupT",
          "hgvs_p": "p.His595fs",
          "transcript": "NM_001394964.1",
          "protein_id": "NP_001381893.1",
          "transcript_support_level": null,
          "aa_start": 594,
          "aa_end": null,
          "aa_length": 1143,
          "cds_start": 1782,
          "cds_end": null,
          "cds_length": 3432,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001394964.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEK10",
          "gene_hgnc_id": 18592,
          "hgvs_c": "c.1869dupT",
          "hgvs_p": "p.His624fs",
          "transcript": "NM_001394965.1",
          "protein_id": "NP_001381894.1",
          "transcript_support_level": null,
          "aa_start": 623,
          "aa_end": null,
          "aa_length": 1125,
          "cds_start": 1869,
          "cds_end": null,
          "cds_length": 3378,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001394965.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
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          "gene_symbol": "NEK10",
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          "hgvs_c": "c.1869dupT",
          "hgvs_p": "p.His624fs",
          "transcript": "NM_001394971.1",
          "protein_id": "NP_001381900.1",
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          "cds_start": 1869,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
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          "gene_symbol": "NEK10",
          "gene_hgnc_id": 18592,
          "hgvs_c": "c.1869dupT",
          "hgvs_p": "p.His624fs",
          "transcript": "ENST00000898306.1",
          "protein_id": "ENSP00000568365.1",
          "transcript_support_level": null,
          "aa_start": 623,
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          "cds_start": 1869,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        {
          "aa_ref": "H",
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 20,
          "exon_rank_end": null,
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          "intron_rank": null,
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          "gene_symbol": "NEK10",
          "gene_hgnc_id": 18592,
          "hgvs_c": "c.1782dupT",
          "hgvs_p": "p.His595fs",
          "transcript": "NM_001394967.1",
          "protein_id": "NP_001381896.1",
          "transcript_support_level": null,
          "aa_start": 594,
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          "cds_start": 1782,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
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          "intron_rank": null,
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          "gene_symbol": "NEK10",
          "gene_hgnc_id": 18592,
          "hgvs_c": "c.1752dupT",
          "hgvs_p": "p.His585fs",
          "transcript": "NM_001394968.1",
          "protein_id": "NP_001381897.1",
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          "cds_start": 1752,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "NM_001394968.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
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          "gene_symbol": "NEK10",
          "gene_hgnc_id": 18592,
          "hgvs_c": "c.1731dupT",
          "hgvs_p": "p.His578fs",
          "transcript": "ENST00000945408.1",
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        {
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          "gene_symbol": "NEK10",
          "gene_hgnc_id": 18592,
          "hgvs_c": "c.1782dupT",
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          "transcript": "NM_001394969.1",
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          "aa_end": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "NM_001394969.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
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          "gene_symbol": "NEK10",
          "gene_hgnc_id": 18592,
          "hgvs_c": "c.1869dupT",
          "hgvs_p": "p.His624fs",
          "transcript": "NM_199347.4",
          "protein_id": "NP_955379.2",
          "transcript_support_level": null,
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        },
        {
          "aa_ref": "H",
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          "consequences": [
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          ],
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          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEK10",
          "gene_hgnc_id": 18592,
          "hgvs_c": "c.1869dupT",
          "hgvs_p": "p.His624fs",
          "transcript": "ENST00000341435.9",
          "protein_id": "ENSP00000343847.5",
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        {
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          "exon_count": 7,
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          "gene_symbol": "NEK10",
          "gene_hgnc_id": 18592,
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          "hgvs_p": "p.His110fs",
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          "protein_id": "ENSP00000392344.1",
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        {
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          ],
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          "gene_symbol": "NEK10",
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          "hgvs_c": "c.237dupT",
          "hgvs_p": "p.His80fs",
          "transcript": "ENST00000435584.5",
          "protein_id": "ENSP00000412651.1",
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          "biotype": "protein_coding",
          "feature": "ENST00000435584.5"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H?",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
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          "gene_symbol": "NEK10",
          "gene_hgnc_id": 18592,
          "hgvs_c": "c.1869dupT",
          "hgvs_p": "p.His624fs",
          "transcript": "XM_017005762.3",
          "protein_id": "XP_016861251.1",
          "transcript_support_level": null,
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      "alphamissense_prediction": null,
      "bayesdelnoaf_score": null,
      "bayesdelnoaf_prediction": null,
      "phylop100way_score": -2.282,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.09,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 11,
      "acmg_classification": "Pathogenic",
      "acmg_criteria": "PVS1,PM2,PP5",
      "acmg_by_gene": [
        {
          "score": 11,
          "benign_score": 0,
          "pathogenic_score": 11,
          "criteria": [
            "PVS1",
            "PM2",
            "PP5"
          ],
          "verdict": "Pathogenic",
          "transcript": "NM_152534.6",
          "gene_symbol": "NEK10",
          "hgnc_id": 18592,
          "effects": [
            "frameshift_variant"
          ],
          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.1869dupT",
          "hgvs_p": "p.His624fs"
        }
      ],
      "clinvar_disease": " 44, primary,Ciliary dyskinesia",
      "clinvar_classification": "Pathogenic",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "Ciliary dyskinesia, primary, 44",
      "pathogenicity_classification_combined": "Pathogenic",
      "custom_annotations": null
    }
  ],
  "message": null
}
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